| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
A
|
CHN
|
n.a.
|
2
|
n.a.
|
Muscular hypotonia
Delayed speech and language development Gait difficulties Abnormal central motor function Bradykinesia Intellectual developmental disorder Spasticity Developmental delay/intellectual disability Global developmental delay Seizures Cognitive impairment Show more (+8) |
n.a.
|
|
Yes
|
♀
|
A
|
CHN
|
n.a.
|
10
|
No
|
Spasticity
Seizures Cognitive impairment Delayed speech and language development Developmental delay/intellectual disability Intellectual developmental disorder Gait difficulties Microcephaly Autonomic sign/sympt. Global developmental delay Bradykinesia Abnormal central motor function Muscular hypotonia Show more (+10) |
n.a.
|
|
No
|
♂
|
A
|
CHN
|
n.a.
|
5
|
n.a.
|
Spasticity
Global developmental delay Intellectual developmental disorder Seizures Cognitive impairment Developmental delay/intellectual disability Abnormal central motor function Delayed speech and language development Gait difficulties Autonomic sign/sympt. Bradykinesia Muscular hypotonia Show more (+9) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
21
|
No
|
Muscular hypotonia
Spasticity Developmental delay/intellectual disability Intellectual developmental disorder Cognitive impairment Dystonia (any or unspecified) Abnormal central motor function Gait difficulties Show more (+5) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
7
|
n.a.
|
Intellectual developmental disorder
Spasticity Muscular hypotonia Dystonia (any or unspecified) Developmental delay/intellectual disability Cognitive impairment Gait difficulties Abnormal central motor function Show more (+5) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
1
|
No
|
Gait difficulties
Spasticity Intellectual developmental disorder Global developmental delay Developmental delay/intellectual disability Cognitive impairment Abnormal central motor function Bradykinesia Muscular hypotonia Seizures Delayed speech and language development Show more (+8) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
8
|
n.a.
|
Abnormal central motor function
Global developmental delay Cognitive impairment Developmental delay/intellectual disability Gait difficulties Seizures Bradykinesia Delayed speech and language development Muscular hypotonia Spasticity Autonomic sign/sympt. Intellectual developmental disorder Show more (+9) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
2
|
No
|
Global developmental delay
Cognitive impairment Bradykinesia Microcephaly Delayed speech and language development Muscular hypotonia Abnormal central motor function Intellectual developmental disorder Gait difficulties Spasticity Developmental delay/intellectual disability Seizures Show more (+9) |
n.a.
|
|
Yes
|
♀
|
A
|
CHN
|
n.a.
|
1
|
No
|
Cognitive impairment
Global developmental delay Intellectual developmental disorder Gait difficulties Seizures Abnormal central motor function Autonomic sign/sympt. Muscular hypotonia Delayed speech and language development Microcephaly Developmental delay/intellectual disability Bradykinesia Spasticity Show more (+10) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
n.a.
|
2
|
n.a.
|
Bradykinesia
Developmental delay/intellectual disability Spasticity Intellectual developmental disorder Abnormal central motor function Delayed speech and language development Global developmental delay Gait difficulties Cognitive impairment Seizures Microcephaly Muscular hypotonia Show more (+9) |
n.a.
|